A1 Refereed original research article in a scientific journal
Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer
Authors: Hilker C., Windebank S., Meyer J., Zuber V., Mills I., Andreassen O., Witoelar A., Bettella F., Kote-Jarai Z., Easton D., Eeles R., Urbanucci A., Giles G., Muir K., Benlloch S., Al Olama A., Weischer M., Travis R., Neal D., Pharoah P., Wiklund F., Gronberg H., Haiman C., Schleutker J., Maier C., Kibel A., Cybulski C., Cannon-Albright L., Khaw K., Stanford J., Blot W., Thibodeau S., Pandha H., Teixeira M., Humphreys M., Chenevix-Trench G., Park J., Brenner H., Batra J., Kaneva R., Houlston R., Rosenberger A., Landi M., Caporaso N., Han Y., Hung R., Bickeböller H., Brennan P., Easton D., Michailidou K., Christiani D., Amos C., Wu X., Ye Y., Heinrich J., Risch A., Offit K., Dennis J., McGuffog L., Couch F., Berchuck A., Antoniou A., Bolla M., Wang Q., Tessier D., Simard J., Gonzalez-Neira A., Benitez J., Luccarini C., Dicks E., Lee A., Dunning A., Cunningham J., Nordestgaard B., Nielsen S., Bojesen S., Robidoux F., LaBoissière S., Vincent D., Bacot F.
Publisher: BioMed Central Ltd.
Publication year: 2017
Journal: BMC Genomics
Journal name in source: BMC Genomics
Volume: 18
Issue: 1
Number of pages: 11
ISSN: 1471-2164
DOI: https://doi.org/10.1186/s12864-017-3620-y
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/28257379
Conclusions
This is the first study to evaluate the enrichment of epigenetic readers in genome-wide associations studies for SNPs within enhancers, and provides a powerful tool for enriching and prioritizing PC and BC genetic risk loci. Our study represents a proof of principle applicable to other diseases and traits that can be used to redefine molecular mechanisms of human phenotypic variation.
Keywords:
BRD4, Breast cancer risk, Functional annotation, Genome-wide association studies, Prostate cancer risk, Risk loci, SNPs, Super-enhancer
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